Dyskeratosis Congenita With Corneal Limbal Insufficiency


ASLAN D. , ÖZDEK Ş. , Camurdan O., BİDECİ A. , CİNAZ P.

PEDIATRIC BLOOD & CANCER, vol.53, no.1, pp.95-97, 2009 (Journal Indexed in SCI) identifier identifier identifier

  • Publication Type: Article / Article
  • Volume: 53 Issue: 1
  • Publication Date: 2009
  • Doi Number: 10.1002/pbc.21960
  • Title of Journal : PEDIATRIC BLOOD & CANCER
  • Page Numbers: pp.95-97

Abstract

We describe a newly diagnosed Turkish adolescent female with Dyskeratosis congenita along with the novel ocular finding of corneal limbal insufficiency. Corneal limbal insufficiency was suggested to be a premature aging sign resulting from a deficiency in corneal stein cell activity, a biological process caused by underlying telomeric defect in this disease. Pediatr Blood Cancer 2009;53:95-97. (C) 2()09 Wiley-Liss, Inc.